Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8665
Gene Symbol: EIF3F
EIF3F
eukaryotic translation initiation factor 3 subunit F 0.736 0.385 0.97
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2016 2017
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1
farnesyl-diphosphate farnesyltransferase 1 0.621 0.615 4.1E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 2271
Gene Symbol: FH
FH
fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2005 2005
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2001 2001
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2011 2011
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
folate receptor alpha 0.522 0.885 0.13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2015 2015
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 1993 1993
Entrez Id: 2530
Gene Symbol: FUT8
FUT8
fucosyltransferase 8 0.603 0.692 9.9E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2010 2010
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.600 strong 1.000 1 0 2005 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 1997 1997
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2008 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.460 strong 1.000 1 0 2006 2019
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.310 strong 0.500 1 0 2003 2004
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2004 2004
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
glutamate-ammonia ligase 0.513 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 strong 1.000 1 0 2001 2019
Entrez Id: 2760
Gene Symbol: GM2A
GM2A
GM2 ganglioside activator 0.678 0.692 3.1E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 strong 1.000 1 0 2015 2016
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2891
Gene Symbol: GRIA2
GRIA2
glutamate ionotropic receptor AMPA type subunit 2 0.573 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.360 moderate 1.000 1 0 2001 2019
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3
general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2
GTP binding protein 2 0.736 0.423 0.32
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2014 2014